DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation.
about
Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brainMolecular pathology of dentatorubral-pallidoluysian atrophyNuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicityThe relationship between (CAG)n repeat number and age of onset in a family with dentatorubral-pallidoluysian atrophy (DRPLA): diagnostic implications of confirmatory and predictive testingRelations between genotype and phenotype in German patients with the Machado-Joseph disease mutationThe complex clinical and genetic classification of inherited ataxias. I. Dominant ataxias.Cervical dystonia in dentatorubral-pallidoluysian atrophy.The likelihood of being affected with Huntington disease by a particular age, for a specific CAG sizeNon-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosisTrinucleotide repeats and neuropsychiatric disorders.A sporadic case of dentatorubral pallidoluysian atrophy (DRPLA) with CAG repeat expansion but no clinical abnormalities in the father.Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.Modifiers and mechanisms of multi-system polyglutamine neurodegenerative disorders: lessons from fly models.Polyglutamine (PolyQ) diseases: genetics to treatments.Studying polyglutamine diseases in Drosophila.Proteins Containing Expanded Polyglutamine Tracts and Neurodegenerative Disease.Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy.Poly-L-glutamine forms cation channels: relevance to the pathogenesis of the polyglutamine diseases.Clinical implications of unstable DNA repeat sequences.The genetic defect causing Huntington's disease: repeated in other contexts?Clinical aspects of CAG repeat diseases.The neuropathology of CAG repeat diseases: review and update of genetic and molecular features.Trinucleotide repeat instability: genetic features and molecular mechanisms.Toward understanding the molecular pathology of Huntington's disease.Huntington's disease and dentatorubral-pallidoluysian atrophy: proteins, pathogenesis and pathology.Dentatorubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed North American and European pedigrees.Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability.Nucleation of protein aggregation kinetics as a basis for genotype-phenotype correlations in polyglutamine diseases.Hypoalbuminemia in early onset dentatorubral-pallidoluysian atrophy due to leakage of albumin in multiple organs.The gender effect in juvenile Huntington disease patients of Italian origin.Early-childhood progressive myoclonus epilepsy presenting as partial seizures in dentatorubral-pallidoluysian atrophy.Atypical movement disorders in the early stages of Huntington's disease: clinical and genetic analysis.The first identified French family with dentatorubral-pallidoluysian atrophy.Electroclinical features of epilepsy in patients with juvenile type dentatorubral-pallidoluysian atrophy.Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1.Clinical and magnetic resonance imaging features of elderly onset dentatorubral-pallidoluysian atrophy.Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.Is cerebral white matter involvement helpful in the diagnosis of dentatorubral-pallidoluysian atrophy?Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and spinocerebellar ataxia type 1.Nasal mucosal thickening simulating a tumor: potential for misdiagnosis in brain perfusion imaging.
P2860
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P2860
DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
DNA analysis in hereditary den ...... lecular basis of anticipation.
@en
type
label
DNA analysis in hereditary den ...... lecular basis of anticipation.
@en
prefLabel
DNA analysis in hereditary den ...... lecular basis of anticipation.
@en
P2093
P356
P1433
P1476
DNA analysis in hereditary den ...... lecular basis of anticipation.
@en
P2093
Murayama N
Takahashi M
Yamauchi N
P304
P356
10.1212/WNL.45.1.143
P407
P577
1995-01-01T00:00:00Z